Henry Houlden

Henry Houlden

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Henry Houlden

Henry Houlden

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98Publications

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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Lancet Neurol 2019 Dec 31;18(12):1136-1146. Epub 2019 Jul 31.

Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(19)30235-2DOI Listing
December 2019

Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy.

J Neurol Neurosurg Psychiatry 2019 Dec 10;90(12):1306. Epub 2019 Aug 10.

Department of Neuromuscular Diseases and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK

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http://dx.doi.org/10.1136/jnnp-2019-321021DOI Listing
December 2019

A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.

J Hum Genet 2019 Nov 17;64(11):1141-1144. Epub 2019 Aug 17.

Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, School of Medicine, Koç University Translational Medicine Research Center, Istanbul, Turkey.

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http://www.nature.com/articles/s10038-019-0652-y
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http://dx.doi.org/10.1038/s10038-019-0652-yDOI Listing
November 2019

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 Oct 19;29(10):747-757. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.003DOI Listing
October 2019

ARSA variants in α-synucleinopathies.

Brain 2019 Oct 31. Epub 2019 Oct 31.

Department of Human Genetics, McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1093/brain/awz340DOI Listing
October 2019

Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes.

J Mov Disord 2019 Sep 26. Epub 2019 Sep 26.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.14802/jmd.19030DOI Listing
September 2019

Are some C19orf12 variants monoallelic for neurological disorders?

Parkinsonism Relat Disord 2019 Aug 13;65:267-269. Epub 2019 May 13.

School of Biological Sciences, University of the Punjab, Lahore, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.05.020DOI Listing
August 2019

Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.

Am J Med Genet A 2019 Aug 20;179(8):1507-1515. Epub 2019 May 20.

School of Biology, College of Science, University of Tehran, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.61184DOI Listing
August 2019

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.

J Inherit Metab Dis 2019 Jul 21;42(4):598-607. Epub 2019 Feb 21.

MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1002/jimd.12053DOI Listing
July 2019

Assessment of APOE in atypical parkinsonism syndromes.

Neurobiol Dis 2019 07 21;127:142-146. Epub 2019 Feb 21.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2019.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588472PMC
July 2019

Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes.

J Neurol Neurosurg Psychiatry 2019 Jul 13;90(7):768-773. Epub 2019 Mar 13.

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1136/jnnp-2018-320151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585258PMC
July 2019

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in -Related Diseases.

J Clin Med 2019 07 8;8(7). Epub 2019 Jul 8.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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http://dx.doi.org/10.3390/jcm8070991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679130PMC
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

C9orf72 and intracerebral hemorrhage.

Neurobiol Aging 2019 Jul 18. Epub 2019 Jul 18.

Neurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery and UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.07.007DOI Listing
July 2019

Kleine-Levin syndrome is associated with LMOD3 variants.

J Sleep Res 2019 Jun 19;28(3):e12718. Epub 2018 Jun 19.

Department of Physiology, Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1111/jsr.12718DOI Listing
June 2019

Leucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson disease.

PLoS One 2018 3;13(12):e0207984. Epub 2018 Dec 3.

Department of Molecular Neuroscience, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207984PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277104PMC
May 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

An update on advances in magnetic resonance imaging of multiple system atrophy.

J Neurol 2019 Apr 20;266(4):1036-1045. Epub 2018 Nov 20.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, WC1N 3BG, London, UK.

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http://dx.doi.org/10.1007/s00415-018-9121-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420901PMC
April 2019

Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.

Sci Rep 2019 Apr 25;9(1):6559. Epub 2019 Apr 25.

Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1038/s41598-019-42902-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484105PMC
April 2019

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurol Genet 2019 Apr 1;5(2):e322. Epub 2019 Apr 1.

Department of Neuromuscular Diseases (A.H., A.C., M.G.H., M.M.R.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Molecular Neuroscience (A.M.P., H.H.), UCL Queen Square Institute of Neurology; Department of Neuro-ophthalmology (F.B.F.R.C.O.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Division of Neuropathology (Z.J., S.B.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Clinical and Movement Neurosciences (Z.J.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (L.D., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Human Genetics and Hussman Institute for Human Genomics (A.P.R., S.Z.), University of Miami, FL; Department of Neurogenetics (C.E.W., J.M.P.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Neurometabolic Unit (I.P.H.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; and Department of Neurodegenerative Disease (S.B.), UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639PMC
April 2019

Early versus late anticoagulation for ischaemic stroke associated with atrial fibrillation: multicentre cohort study.

J Neurol Neurosurg Psychiatry 2019 Mar 19;90(3):320-325. Epub 2018 Nov 19.

Department of Brain Repair and Rehabilitation, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery UCL Stroke Research Centre, London, UK

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http://dx.doi.org/10.1136/jnnp-2018-318890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518971PMC
March 2019

Spinocerebellar ataxia: an update.

J Neurol 2019 Feb 3;266(2):533-544. Epub 2018 Oct 3.

Department of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, London, WC1N 3BG, UK.

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http://link.springer.com/10.1007/s00415-018-9076-4
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http://dx.doi.org/10.1007/s00415-018-9076-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373366PMC
February 2019

Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura.

Ann Neurol 2019 Feb 17;85(2):284-290. Epub 2019 Jan 17.

Stroke Research Centre, Department of Brain Repair and Rehabilitation, University College London Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London.

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http://doi.wiley.com/10.1002/ana.25407
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http://dx.doi.org/10.1002/ana.25407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492172PMC
February 2019

mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

Neurol Genet 2019 Feb 16;5(1):e306. Epub 2019 Jan 16.

Neurogenetics Unit (A.R.B.d.P., F.F., B.D.R.d.A., I.B., C.L., D.d.C.d.S., F.K.), Neurology Department, Hospital das Clínicas da Universidade de São Paulo, Brazil; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Leonard Wolfson Experimental Neurology Centre (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Human Genome and Stem Cell Research Center (U.S.M., L.I.M.-S., F.K.), Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, Brazil; and Neuroradiology Section (L.T.L.), Hospital das Clínicas da Universidade de São Paulo, Brazil.

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http://dx.doi.org/10.1212/NXG.0000000000000306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340380PMC
February 2019

Impaired Bioenergetics in Mutant Mitochondrial DNA Determines Cell Fate During Seizure-Like Activity.

Mol Neurobiol 2019 Jan 27;56(1):321-334. Epub 2018 Apr 27.

Department of Molecular Neuroscience, UCL, London, UK.

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http://dx.doi.org/10.1007/s12035-018-1078-9DOI Listing
January 2019

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.

J Neurogenet 2018 12 10;32(4):316-321. Epub 2018 Jul 10.

a Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi" Unit of Child Neurology and Psychiatry , University of Messina , Messina , Italy.

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http://dx.doi.org/10.1080/01677063.2018.1476510DOI Listing
December 2018

PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.

Mov Disord 2018 12 21;33(12):1961-1965. Epub 2018 Oct 21.

Neurodegeneration Imaging Group, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1002/mds.27523DOI Listing
December 2018

IGHMBP2 mutation associated with organ-specific autonomic dysfunction.

Neuromuscul Disord 2018 12 29;28(12):1012-1015. Epub 2018 Aug 29.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3AR, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966173155
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http://dx.doi.org/10.1016/j.nmd.2018.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302219PMC
December 2018

LRP10 in α-synucleinopathies.

Lancet Neurol 2018 12 13;17(12):1033-1034. Epub 2018 Nov 13.

Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.1016/S1474-4422(18)30407-1DOI Listing
December 2018

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.

J Neurol Neurosurg Psychiatry 2018 11 24;89(11):1226-1227. Epub 2018 Jan 24.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-317253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6227801PMC
November 2018

C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

Mov Disord Clin Pract 2018 Nov-Dec;5(6):575-585. Epub 2018 Nov 8.

Department of Molecular Neuroscience Institute of Neurology, University College London London, WC1N 3BG UK.

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http://dx.doi.org/10.1002/mdc3.12677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277362PMC
November 2018

Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study.

Epileptic Disord 2018 Oct;20(5):423-427

Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", Unit of Child Neurology and Psychiatry, University of Messina.

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http://dx.doi.org/10.1684/epd.2018.0992DOI Listing
October 2018

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in .

J Pediatr Genet 2018 Sep 14;7(3):114-116. Epub 2018 Jun 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1055/s-0038-1651526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087480PMC
September 2018

A Review of Copy Number Variants in Inherited Neuropathies.

Curr Genomics 2018 Sep;19(6):412-419

Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.

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http://www.eurekaselect.com/160880/article
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http://dx.doi.org/10.2174/1389202919666180330153316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128387PMC
September 2018

Association of functional MMP-2 gene variant with intracranial aneurysms: case-control genetic association study and meta-analysis.

Br J Neurosurg 2018 Jun 15;32(3):255-259. Epub 2018 Jan 15.

a Stroke Research Centre, Department of Brain Repair and Rehabilitation , Institute of Neurology, National Hospital for Neurology and Neurosurgery , London , UK.

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http://dx.doi.org/10.1080/02688697.2018.1427213DOI Listing
June 2018

Phenotypes, genotypes, and the management of paroxysmal movement disorders.

Dev Med Child Neurol 2018 06 30;60(6):559-565. Epub 2018 Mar 30.

Department of Molecular Neuroscience, Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/dmcn.13744DOI Listing
June 2018

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Front Neurol 2018 26;9:456. Epub 2018 Jun 26.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.3389/fneur.2018.00456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028608PMC
June 2018

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Neuromuscul Disord 2018 04 10;28(4):346-349. Epub 2018 Jan 10.

MRC Centre for Neuromuscular Disease and Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2018.01.002DOI Listing
April 2018

Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.

Stem Cell Reports 2018 04 29;10(4):1294-1307. Epub 2018 Mar 29.

The Gurdon Institute, ARUK Stem Cell Research Centre and Department of Biochemistry, University of Cambridge, Cambridge CB2 1QN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2018.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998752PMC
April 2018

Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics.

Mov Disord Clin Pract 2018 May-Jun;5(3):317-320. Epub 2018 Apr 17.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology Queen Square London UK.

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http://dx.doi.org/10.1002/mdc3.12615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016019PMC
April 2018

Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis.

Mol Cell Biochem 2018 Mar 23;440(1-2):147-156. Epub 2017 Aug 23.

Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai, 625021, India.

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http://dx.doi.org/10.1007/s11010-017-3163-1DOI Listing
March 2018

Autonomic dysfunction in genetic forms of synucleinopathies.

Mov Disord 2018 03;33(3):359-371

Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom, and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.27343DOI Listing
March 2018

Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy.

Pract Neurol 2018 Feb 6;18(1):52-56. Epub 2017 Dec 6.

Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/practneurol-2017-001711DOI Listing
February 2018

loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Ann Clin Transl Neurol 2018 02 22;5(2):216-221. Epub 2018 Jan 22.

Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom.

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http://dx.doi.org/10.1002/acn3.522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817843PMC
February 2018

Neurodegeneration with brain iron accumulation.

Handb Clin Neurol 2017 ;145:157-166

UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/B978-0-12-802395-2.00011-0DOI Listing
January 2018

Genetics of neurodegenerative diseases: an overview.

Handb Clin Neurol 2017 ;145:309-323

UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/B978-0-12-802395-2.00022-5DOI Listing
January 2018

Atypical periodic paralysis and myalgia: A novel phenotype.

Neurology 2018 01 3;90(5):e412-e418. Epub 2018 Jan 3.

From the MRC Centre for Neuromuscular Diseases (E.M., F.J., R.S.S., D.F., M.P., D.R.R., K.S., H.H., E.H., R.Q., J.L.H., M.G.H.), Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Neuromuscular Diseases Unit/ALS Clinic (C.N.), Kantonsspital St. Gallen, Switzerland; Neurogenetics Unit (R.S., H.H.) and Department of Neuropathology (J.L.H.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Human Genetics Laboratory Genetica (R.S.), Zurich, Switzerland; Genetics Department (R.M.), Viapath, Guy's Hospital, London; Wellcome Trust Centre for Mitochondrial Research (A.S.), University of Newcastle, Framlington Place, Newcastle Upon Tyne, UK; Institute of Pathology (E.H.), Belfast Health and Social Care Trust, Northern Ireland; Department of Neurology (J.P.), John Radcliffe Hospital, Oxford, UK; Departments of Biomedicine and Anesthesia (S.T.), Basel University Hospital, Switzerland; Department of Life Sciences (S.T.), Microbiology and Applied Pathology Section, University of Ferrara, Italy; Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital; and Department of Basic and Clinical Neuroscience (H.J.), Institute of Psychiatry, Psychology and Neuroscience, and Randall Division of Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790PMC
January 2018

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.

Cell Rep 2018 01;22(3):820-831

Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Clinical and Experimental Epilepsy, University College London, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.12.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792450PMC
January 2018

Response to the commentary of Yates RL and DeLuca GC on the study: HLA-DRB1*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis.

Mult Scler Relat Disord 2018 01 12;19:168-170. Epub 2016 Aug 12.

Queen Square MS Centre NMR Research Unit, Department of Neuroinflammation, UCL Institute of Neurology, London, UK; National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre, UK.

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http://dx.doi.org/10.1016/j.msard.2016.08.006DOI Listing
January 2018

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

J Peripher Nerv Syst 2017 12 11;22(4):460-463. Epub 2017 Sep 11.

MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/jns.12235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763335PMC
December 2017

Multiple system atrophy: genetic risks and alpha-synuclein mutations.

F1000Res 2017 30;6:2072. Epub 2017 Nov 30.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.12688/f1000research.12193.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710304PMC
November 2017

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to mutations.

Neurol Genet 2017 Oct 22;3(5):e188. Epub 2017 Sep 22.

Department of Molecular Neuroscience (D.S.L., J.H., N.W.W., H.H., H.P.-F.), UCL Institute of Neurology, London, UK; MRC Toxicology Unit (S.H.Y.L., L.M.M.), Leicester, UK; Reta Lila Weston Institute of Neurological Studies (A.J.N.), UCL Institute of Neurology, London, UK; and Neurogenetics Laboratory (H.H.), National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610041PMC
October 2017

Reply: PRUNE1: a disease-causing gene for secondary microcephaly.

Brain 2017 10;140(10):e62

Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1093/brain/awx199DOI Listing
October 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Am J Hum Genet 2017 Sep;101(3):451-458

Nuffield Department of Clinical Neurosciences, University of Oxford, 6th Floor West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591020PMC
September 2017